Nástin genetické architektury primární hyperurikémie a dny.

Gout, arthritis urica, is a metabolic disorder caused by an inflammatory reaction to the deposition of urate crystals into joints and soft tissues. Chronic hyperuricaemia, the cause of the gout, results in an imbalance between endogenous production and excretion of uric acid. The most common mechanism leading to hyperuricaemia is decreased excretion of uric acid. Urate transport is a complex process involving a number of transmembrane proteins that provide reabsorption (mostly URAT1, GLUT9) and secretion (ABCG2) on the apical and basolateral side of the proximal tubules. ABCG2, with a significant proportion, provides transport in the gastrointestinal tract. New knowledge on uric acid excretion has allowed the development of a new strategy in the treatment of hyperuricaemia by blocking urate transporters. Knowledge of the genetic background of uricemia is essential for early identification of the aetiology of the disease, the choice of appropriate treatment, and also the monitoring of compliance by the patient. Detailed examination of purine metabolism and uric acid excretion in specialized laboratories is particularly useful for patients with early onset and / or familial outbreaks of the disease. [ABSTRACT FROM AUTHOR]